Varaico: Literature-Extracted Genetic Variants

PMS1

554 papers

RefSeq Summary

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a kno...

Pfam Domains

HATPase_caa 17–151UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

HATPase_c_3aa 18–137UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 210–337UCSCDNA mismatch repair protein, C-terminal domain

HMG_boxaa 571–638UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

PMS1 homolog 1, mismatch repair system component

HGNC Previous Symbol

PMSL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000534.5

p.N349H

c.1045A>C

Surrounding Variants

1 paper

NM_000534.5

p.E347*

c.1039G>T

1 paper

NM_000534.5

p.Y346S

c.1037A>C

1 paper

NM_000534.5

p.V353A

c.1058T>C

1 paper

NM_000534.5

p.N344D

c.1030A>G

1 paper

NM_000534.5

p.S354T

c.1060T>A

1 paper

NM_000534.5

p.A355T

c.1063G>A

1 paper

NM_000534.5

p.A355G

c.1064C>G

2 papers

NM_000534.5

p.S342_T343delins

c.1026_1028delinsGTA

1 paper

NM_000534.5

p.A356S

c.1066G>T

1 paper

NM_000534.5

p.P339A

c.1015C>G

1 paper

NM_000534.5

p.P339S

c.1015C>T

1 paper

NM_000534.5

p.V359I

c.1075G>A